Canonical Allele Identifier: CA130592471

Gene: SGCD

Linked Data

• dbSNP Id: rs904253269
• gnomAD v2: 5-155756462-T-C
• gnomAD v3: 5-156329452-T-C
• gnomAD v4: 5-156329452-T-C
• MyVariant Identifiers: chr5:g.155756462T>C (hg19) ; chr5:g.156329452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156329452T>C , CM000667.2:g.156329452T>C	GRCh38
NC_000005.9:g.155756462T>C , CM000667.1:g.155756462T>C	GRCh37
NC_000005.8:g.155689040T>C	NCBI36
NG_008693.2:g.464109T>C , LRG_205:g.464109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.-43-82T>C MANE Select	ENSP00000338343.4:n.-43-82T>C
ENST00000337851.8:c.-43-82T>C	ENSP00000338343.4:n.-43-82T>C
ENST00000435422.7:c.-1+2220T>C	ENSP00000403003.2:n.-1+2220T>C
ENST00000517913.5:c.-43-82T>C	ENSP00000429378.1:n.-43-82T>C
ENST00000524347.2:c.-43-82T>C	ENSP00000430794.1:n.-43-82T>C
NM_000337.5:c.-43-82T>C , LRG_205t1:c.-43-82T>C	NP_000328.2:n.-43-82T>C
NM_001128209.1:c.-1+2220T>C	NP_001121681.1:n.-1+2220T>C
NM_172244.2:c.-43-82T>C	NP_758447.1:n.-43-82T>C
XM_005265966.3:c.-43-82T>C	XP_005266023.1:n.-43-82T>C
XM_005265967.1:c.-43-82T>C	XP_005266024.1:n.-43-82T>C
XM_006714911.2:c.-43-82T>C	XP_006714974.1:n.-43-82T>C
XM_011534621.1:c.1-15037T>C	XP_011532923.1:n.1-15037T>C
XR_941123.1:n.254+18001A>G
XM_005265966.5:c.-43-82T>C	XP_005266023.1:n.-43-82T>C
XM_005265967.2:c.-43-82T>C	XP_005266024.1:n.-43-82T>C
XM_011534621.2:c.1-15037T>C	XP_011532923.1:n.1-15037T>C
XM_017009723.2:c.-43-82T>C	XP_016865212.1:n.-43-82T>C
XM_017009724.1:c.-43-82T>C	XP_016865213.1:n.-43-82T>C
NM_001128209.2:c.-1+2220T>C	NP_001121681.1:n.-1+2220T>C
NM_172244.3:c.-43-82T>C	NP_758447.1:n.-43-82T>C
NM_000337.6:c.-43-82T>C MANE Select	NP_000328.2:n.-43-82T>C